We Need Your Help
to find a cure for Dent disease.
We’re raising funds to support Dent disease research so we may halt its progression and find a cure.
What We Do
Educate
Inform patients, the medical community, and the public about this rare disease.
Connect
Create connections between patients, families, and the medical community.
Educate
Inform patients, the medical community, and the public about this rare disease.
- What is Dent disease?
- Who is affected by Dent disease?
- What is the progression of Dent disease?
- What are the types of Dent disease?
What is Dent disease?
Dent disease is a rare genetic kidney disorder characterized by spillage of small proteins in the urine, increased levels of calcium in the urine, kidney calcifications (nephrocalcinosis), recurrent episodes of kidney stones (nephrolithiasis), and chronic kidney disease.
Who is affected by Dent disease?
Dent disease affects males almost exclusively. Symptoms usually appear during childhood, but some individuals may be undiagnosed well into adulthood. While Dent disease is fully expressed only in males, some females who carry the gene may develop mild manifestations such as spillage of small proteins in the urine, increased levels of calcium in the urine, or kidney stones.
What is the progression of Dent disease?
In some cases, the disorder may progressively worsen causing severe kidney disease; in other cases affected individuals only experience mild or moderate disease into old age. Kidney disease can progressively worsen until the kidneys stop functioning (end-stage renal failure), although this usually does not occur until 30 to 50 years of age or later and will not occur at all in some individuals.
What are the types of Dent disease?
Dent disease can be broken down into two subtypes. Dent disease type 1 is characterized by the previously-mentioned kidney symptoms in “What is Dent disease?”. Dent disease type 2 is characterized by the same kidney symptoms, but individuals may have additional symptoms including mild intellectual disability, eye involvement, or diminished muscle tone (hypotonia). Dent disease type 1 is caused by mutations in the CLCN5 gene. Dent disease type 2 is caused by mutations in the OCRL1 gene. Both of these genes are located on the X chromosome. These mutations may be inherited or occur randomly with no previous family history of the disorder.
For more information about Dent disease or the Dent Disease Foundation, please contact Jennifer Meyer, RN, President of DDF at jennifermeyer@dentdisease.com.
Connect
Create connections between patients, families, and the medical community.
Cure
Support research studies and advocacy work, to find a cure.
Join the
Data Collection Program
Data Collection Program
We are proud to announce our partnership with RARE-X to build out the Dent Disease Data Collection Program.
The program will provide de-identified patient data to researchers working on treatments for Dent disease and other rare diseases. For rare diseases, data collection helps accelerate treatment discovery and ultimately a cure. To learn more about RARE-X and rare disease data collection go to rare-x.org.
The Rare Kidney Stone Consortium
Find out more about the Rare Kidney Stone Consortium’s ongoing Dent disease research studies.